ClinVar Genomic variation as it relates to human health
GRCh38/hg38 7p14.1(chr7:39251052-40641073)x1
Germline
Classification
(1)
Uncertain significance
no assertion criteria provided
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
CDK13 | Some evidence for dosage pathogenicity | Not yet evaluated |
GRCh38 GRCh37 |
656 | 778 | |
CDK13-DT | - | - | - | GRCh38 | - | 11 |
LINC00265 | - | - | - | GRCh38 | - | 10 |
LOC113748390 | - | - | - | GRCh38 | - | 10 |
LOC121175340 | - | - | - | GRCh38 | - | 11 |
LOC121175341 | - | - | - | GRCh38 | - | 13 |
LOC126860003 | - | - | - | GRCh38 | - | 9 |
LOC126860004 | - | - | - | GRCh38 | - | 10 |
LOC126860005 | - | - | - | GRCh38 | - | 12 |
LOC129389788 | - | - | - | GRCh38 | - | 9 |
There are 29 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Dec 10, 2012 | RCV000140653.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023